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Acrocapitofemoral dysplasia

1 OMIM reference -
1 associated gene
20 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 5

Brachydactyly type A1

3 OMIM references -
2 associated genes
13 signs/symptoms

Acrocapitofemoral dysplasia

Brachydactyly type A1

IHH	(UniProt - OMIM)		GDF5	(UniProt - OMIM)
			IHH	(UniProt - OMIM)


COMMON GENES	IHH

Citations in the biomedical literature:

Acrocapitofemoral dysplasia		Brachydactyly type A1
	Synonym(s): (no synonyms)		Synonym(s): - Brachydactyly, Farabee type

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - 1 MeSH reference: C537088


COMMON SIGNS	- Cone epiphyses / epiphysis - Metacarpal anomalies / Archibald's sign - Scoliosis - Short hand / brachydactyly - Short stature / dwarfism / nanism

Acrocapitofemoral dysplasia		Brachydactyly type A1
	Very frequent - Autosomal recessive inheritance - Delayed bone age - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Short limbs / micromelia / brachymelia Frequent - Abnormal vertebral size / shape - Absent / small fingernails / anonychia of hands - Genu varum - Lordosis - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality Occasional - Macrocephaly / macrocrania / megalocephaly / megacephaly - Narrow rib cage / thorax - Pectus carinatum - Pectus excavatum - Short rib cage / thorax		Very frequent - Autosomal dominant inheritance - Short big toe - Short foot / brachydactyly of toes - Thumb hypoplasia / aplasia / absence Occasional - Clinodactyly of fifth finger - Symphalangy of fingers - Talipes-varus / metatarsal varus - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray